Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples

Dlouhá, Lucie; Adámková, Věra; Šedová, Lenka; Olišarová, Věra; Hubáček, J.; Tóthová, Valérie

doi:10.1515/dmdi-2020-0103

Cited by 7 publications

(7 citation statements)

References 34 publications

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“…The prevalence of the *4 allele in the Medjimurje Roma group is lower than in the European population but still higher than in other world populations. Our results are in concordance with those for Hungarian Roma, Czech Roma, and South Asians [ 64 , 65 ]. CYP2D6*4 creates a deficient protein [ 66 ] and contributes to most of the poor metabolizers observed in European populations.…”

Section: Discussionsupporting

confidence: 92%

Untangling SNP Variations within CYP2D6 Gene in Croatian Roma

Marković

Petranović

Tomas

et al. 2022

JPM

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CYP2D6 is a highly polymorphic gene whose variations affect its enzyme activity. To assess whether the specific population history of Roma, characterized by constant migrations and endogamy, influenced the distribution of alleles and thus phenotypes, the CYP2D6 gene was sequenced using NGS (Next Generation Sequencing) method - targeted sequencing in three groups of Croatian Roma (N = 323) and results were compared to European and Asian populations. Identified single nucleotide polymorphisms (SNPs) were used to reconstruct haplotypes, which were translated into the star-allele nomenclature and later into phenotypes. A total of 43 polymorphic SNPs were identified. The three Roma groups differed significantly in the frequency of alleles of polymorphisms 6769 A > G, 6089 G > A, and 5264 A > G (p < 0.01), as well as in the prevalence of the five most represented star alleles: *1, *2, *4, *10, and *41 (p < 0.0001). Croatian Roma differ from the European and Asian populations in the accumulation of globally rare SNPs (6089 G > A, 4589 C > T, 4622 G > C, 7490 T > C). Our results also show that demographic history influences SNP variations in the Roma population. The three socio-culturally different Roma groups studied differ significantly in the distribution of star alleles, which confirms the importance of a separate study of different Roma groups.

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Section: Discussionsupporting

confidence: 92%

Untangling SNP Variations within CYP2D6 Gene in Croatian Roma

Marković

Petranović

Tomas

et al. 2022

JPM

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“…Dlouhá et al reported no significant difference in the genotype/allelic frequencies of CYP2D6 (rs1065852) in Roma/Gypsy and Czech (non-Roma) populations. 25 However, Zhang et al observed the frequency of CYP2D6 rs1065852 in the Lisu population different from the other populations. 26 In our study, rs1065852-A frequency was the highest in the South East Asian populations.…”

Section: Discussionmentioning

confidence: 94%

Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population

Peng

Xing

et al. 2021

PGPM

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Background Genetic variation influences drug reaction or adverse prognosis. The purpose of this research was to genotype very important pharmacogenetic (VIP) variants in the Tibetan population. Methods and Materials Blood samples from 200 Tibetans were randomly collected and 59 VIP variants were genotyped, and then compared our data to 26 other populations in the 1000 project to further analyze and identify significant difference. Results The results showed that on comparing with most of the 26 populations from the 1000 project, rs4291 ( ACE ), rs1051296 ( SLC19A1 ) and rs1065852 ( CYP2D6 ) significantly differed in the Tibetan population. Furthermore, three significant loci were related to drug response. In addition, the allele frequency of Tibetans least differed from that of East Asian populations, and most differed from that of Americans. Conclusion Three significant loci of variation ACE rs4291, SLC19A1 rs1051296 and CYP2D6 rs1065852 were associated with drug response. This result will contribute to improving the information of the Tibetan in the pharmacogenomics database, and providing a theoretical basis for clinical individualised drug use in Tibetans.

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“…For example, in Roma, allelic differences in lactate dehydrogenase (Hubácek et al., 2017b), drug metabolism enzymes (Tomas et al., 2017, Dlouhá et al, in press), or osteoprotegerin (Mydlárová Blaščáková et al., 2017) polymorphisms clearly underlie genetic differences that could have important clinical (optimal treatment or dietary recommendations) or live expectancy consequences.…”

Section: Discussionmentioning

confidence: 99%

Different prevalence of T2DM risk alleles in Roma population in comparison with the majority Czech population

Hubáček

Šedová

Olišarová

et al. 2020

Molec Gen & Gen Med

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Background The Czech governmental study suggests up to a 25% higher prevalence of type 2 diabetes mellitus (T2DM) in the Roma population than within the majority population. It is not known whether and to what extent these differences have a genetic background. Methods To analyze whether the frequencies of the alleles/genotypes of the FTO, TCF7L2, CDKN2A/2B, MAEA, TLE4, IGF2BP2, ARAP1, and KCNJ11 genes differ between the two major ethnic groups in the Czech Republic, we examined them in DNA samples from 302 Roma individuals and 298 Czech individuals. Results Compared to the majority population, Roma are more likely to carry risk alleles in the FTO (26% vs. 16% GG homozygotes, p < .01), IGF2BP2 (22% vs. 10% TT homozygotes, p < .0001), ARAP1 (98% vs. 95% of A allele carriers, p < .005), and CDKN2A/2B (81% vs. 66% of TT homozygotes, p < .001) genes; however, less frequently they are carriers of the TCF7L2 risk allele (34% vs. 48% of the T allele p < .0005). Finally, we found significant accumulation of T2DM‐associated alleles between the Roma population in comparison with the majority population (25.4% vs. 15.2% of the carriers of at least 12 risk alleles; p < .0001). Conclusion The increased prevalence of T2DM in the Roma population may have a background in different frequencies of the risk alleles of genes associated with T2DM development.

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Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples

Cited by 7 publications

References 34 publications

Untangling SNP Variations within CYP2D6 Gene in Croatian Roma

Untangling SNP Variations within CYP2D6 Gene in Croatian Roma

Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population

Different prevalence of T2DM risk alleles in Roma population in comparison with the majority Czech population

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